Canonical Allele Identifier: CA2259227415
Community Standard Title: NM_004448.4(ERBB2):c.2190T= (p.Ala730=)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723642T= , CM000679.2:g.39723642T= GRCh38
NC_000017.10:g.37879895T= , CM000679.1:g.37879895T= GRCh37
NC_000017.9:g.35133421T= NCBI36
NG_007503.1:g.40503T= , LRG_724:g.40503T=

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2190T= MANE Select NP_004439.2:p.Ala730=
ENST00000269571.10:c.2190T= MANE Select ENSP00000269571.4:p.Ala730=
NM_001005862.2:c.2100T= , LRG_724t1:c.2100T= NP_001005862.1:p.Ala700=
NM_001005862.3:c.2100T= NP_001005862.1:p.Ala700=
NM_001289936.1:c.2145T= , LRG_724t4:c.2145T= NP_001276865.1:p.Ala715=
NM_001289936.2:c.2145T= NP_001276865.1:p.Ala715=
NM_001289937.1:c.2190T= NP_001276866.1:p.Ala730=
NM_001289937.2:c.2190T= NP_001276866.1:p.Ala730=
NM_001382782.1:c.2100T= NP_001369711.1:p.Ala700=
NM_001382783.1:c.2100T= NP_001369712.1:p.Ala700=
NM_001382784.1:c.2307T= NP_001369713.1:p.Ala769=
NM_001382785.1:c.2292T= NP_001369714.1:p.Ala764=
NM_001382786.1:c.2289+18T= NP_001369715.1:n.2289+18T=
NM_001382787.1:c.2265T= NP_001369716.1:p.Ala755=
NM_001382788.1:c.2220T= NP_001369717.1:p.Ala740=
NM_001382789.1:c.2211T= NP_001369718.1:p.Ala737=
NM_001382790.1:c.2187T= NP_001369719.1:p.Ala729=
NM_001382791.1:c.2181T= NP_001369720.1:p.Ala727=
NM_001382792.1:c.2172+18T= NP_001369721.1:n.2172+18T=
NM_001382793.1:c.2166+24T= NP_001369722.1:n.2166+24T=
NM_001382794.1:c.2148T= NP_001369723.1:p.Ala716=
NM_001382795.1:c.2142T= NP_001369724.1:p.Ala714=
NM_001382796.1:c.2190T= NP_001369725.1:p.Ala730=
NM_001382797.1:c.2190T= NP_001369726.1:p.Ala730=
NM_001382798.1:c.2190T= NP_001369727.1:p.Ala730=
NM_001382799.1:c.2010T= NP_001369728.1:p.Ala670=
NM_001382800.1:c.2190T= NP_001369729.1:p.Ala730=
NM_001382801.1:c.2142T= NP_001369730.1:p.Ala714=
NM_001382802.1:c.1932T= NP_001369731.1:p.Ala644=
NM_001382803.1:c.2166+24T= NP_001369732.1:n.2166+24T=
NM_001382804.1:c.1362T= NP_001369733.1:p.Ala454=
NM_001382805.1:c.2190T= NP_001369734.1:p.Ala730=
NM_001382806.1:c.1223-322T= NP_001369735.1:n.1223-322T=
NM_004448.3:c.2190T= , LRG_724t2:c.2190T= NP_004439.2:p.Ala730=
NR_110535.1:n.2514T=
NR_110535.2:n.2428T=
ENST00000269571.9:c.2190T= ENSP00000269571.4:p.Ala730=
ENST00000406381.6:c.2100T= ENSP00000385185.2:p.Ala700=
ENST00000445658.6:c.1362T= ENSP00000404047.2:p.Ala454=
ENST00000541774.5:c.2145T= ENSP00000446466.1:p.Ala715=
ENST00000578373.5:c.*1980T= ENSP00000463427.1:n.*1980T=
ENST00000578630.1:n.799T=
ENST00000580074.1:c.296T=
ENST00000582818.5:c.490+18T=
ENST00000583038.5:n.3324T=
ENST00000584450.5:c.2190T= ENSP00000463714.1:p.Ala730=
ENST00000584601.5:c.2100T= ENSP00000462438.1:p.Ala700=
XM_024450641.1:c.2328T= XP_024306409.1:p.Ala776=
XM_024450642.1:c.2283T= XP_024306410.1:p.Ala761=
XM_024450643.1:c.2238T= XP_024306411.1:p.Ala746=